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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Fig. 1

Cerebral MR-imaging of a patient with Walker-Warburg syndrome (WWS) at the age of 12 days (patient 21 a) showing bilateral enlargement of the internal ventricles and cobblestone lissencephaly (Type 2) with lack of gyration (a: axial fluid attenuated inversion recovery [FLAIR]; b: coronal magnetization-prepared rapid gradient echo [MP-RAGE]). The mid-sagittal section scan (c) demonstrates kinking of the brainstem and cerebellar dysplasia with absent vermis. Note the small corpus callosum (T2 weighted turbo spin echo [TSE])

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